Canonical Allele Identifier: CA507007742

Gene: CEBPA

Linked Data

• ClinVar Variation Id: 456688
• ClinVar RCV Id: RCV000549968
• dbSNP Id: rs1277875501
• gnomAD v3: 19-33301914-C-T
• gnomAD v4: 19-33301914-C-T
• MyVariant Identifiers: chr19:g.33792820C>T (hg19) ; chr19:g.33301914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33301914C>T , CM000681.2:g.33301914C>T	GRCh38
NC_000019.9:g.33792820C>T , CM000681.1:g.33792820C>T	GRCh37
NC_000019.8:g.38484660C>T	NCBI36
NG_012022.1:g.5611G>A , LRG_456:g.5611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498907.3:c.501G>A MANE Select	ENSP00000427514.1:p.Glu167=
ENST00000498907.2:c.501G>A	ENSP00000427514.1:p.Glu167=
NM_001285829.1:c.144G>A	NP_001272758.1:p.Glu48=
NM_001287424.1:c.606G>A	NP_001274353.1:p.Glu202=
NM_001287435.1:c.459G>A	NP_001274364.1:p.Glu153=
NM_004364.4:c.501G>A	NP_004355.2:p.Glu167=
NM_001287424.2:c.606G>A	NP_001274353.1:p.Glu202=
NM_004364.5:c.501G>A MANE Select	NP_004355.2:p.Glu167=
NM_001285829.2:c.144G>A	NP_001272758.1:p.Glu48=
NM_001287435.2:c.459G>A	NP_001274364.1:p.Glu153=